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Human Disease

Laurin-Sandrow syndrome

Term ID
DOID:0111350
Synonyms
  • miccor hands and feet with nasal defects
  • MIPduplication of fibuland ulna with absence of tibia and radius
  • mirror hands and feets-nasal defects syndrome
  • mirror-image polydactyly
  • Sandrow syndrome
  • tetramelic mirror-image polydactyly
  • TMIP
Definition
A dysostosis characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia that has_material_basis_in heterozygous inheritance of small (less than 80kb) duplications in a SHH regulatory element located in intron 5 of the LMBR1 gene on chromosome 7q36.3. (2)
References
Ontology
Human Disease   ( DOID:0111350 )
Relationships
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Genes Involved
Zebrafish Models